K. Uddin

发表

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort

M. Uddin, M. Woodbury-Smith, R. Awwal, 2019, BMC Medical Genetics.

Detection of Clinically Relevant Copy Number Variations and Genes in a Bangladeshi Cohort of Neurodevelopmental Disorders

M. Uddin, Md. Ismail Hosen, O. Faruk, 2021 .

Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature Medicine.

An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder

C. Colombi, M. Uddin, D. O’Rielly, 2020, Journal of Autism and Developmental Disorders.

Human genetic and immunological determinants of critical COVID-19 pneumonia

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature.

Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19

Asma R. Bankapur, J. Casanova, W. Kuebler, 2021, iScience.

Detection of Clinically Relevant Copy Number Variation of SEZ6L2 Gene in a Bangladeshi Autism Spectrum Disorder Cohort

L. Banu, R. Amin, Hosneara Akter, 2019, Bangladesh Journal of Medicine.

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

J. Casanova, J. Fellay, S. Constantinescu, 2021, Nature Immunology.

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Journal of Clinical Immunology.

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders

Md. Mazharul Islam, Md Mazharul Islam, M. Uddin, 2023, Frontiers in Genetics.

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

M. Uddin, M. Woodbury-Smith, S. Islam, 2019, Molecular genetics & genomic medicine.

An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)

S. Scherer, M. Uddin, M. Woodbury-Smith, 2018, Clinical case reports.

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Mark S. Anderson, Chun Jimmie Ye, Gabriela K. Fragiadakis, 2022, Science immunology.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Laura E. Covill, P. Gregersen, J. Casanova, 2022, The Journal of experimental medicine.

Analyzing single cell transcriptome data from severe COVID-19 patients

Asma R. Bankapur, A. Alsheikh-Ali, M. Hachim, 2022, STAR Protocols.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population

M. Woodbury-Smith, S. I. Kanta, Hosneara Akter, 2023, Scientific reports.

Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region

Noushad Karuvantevida, Hosneara Akter, Md. Atikur Rahaman, 2024, Brain and behavior.